MCID: AMY037
MIFTS: 34

Amyloidosis, Hereditary Renal malady

Genetic diseases, Nephrological diseases, Bone diseases, Rare diseases, Ear diseases, Cardiovascular diseases categories

Summaries for Amyloidosis, Hereditary Renal

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Familial renal amyloidosis (or familial visceral amyloidosis, or hereditary amyloid nephropathy) is a... more...

MalaCards: Amyloidosis, Hereditary Renal, also known as hereditary amyloid nephropathy, is related to amyloidosis and familial visceral amyloidosis. An important gene associated with Amyloidosis, Hereditary Renal is FGA (fibrinogen alpha chain), and among its related pathways are Hemostasis and Response to elevated platelet cytosolic Ca2+. The compounds nacl and iohexol have been mentioned in the context of this disorder. Affiliated tissues include kidney and bone.

Description from OMIM:48 105200

Aliases & Classifications for Amyloidosis, Hereditary Renal

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48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
hereditary amyloid nephropathy:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

amyloidosis, hereditary renal 48
hereditary amyloid nephropathy 50 63
progressive hereditary glomerulonephritis without deafness 63
amyloidosis, familial visceral 63
familial amyloid nephropathy 50
hereditary renal amyloidosis 50
amyloidosis, ostertag type 50
familial renal amyloidosis 50


External Ids:

OMIM48 105200
ICD10 via Orphanet27 E85.0

Related Diseases for Amyloidosis, Hereditary Renal

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Amyloidosis, Hereditary Renal:



Diseases related to amyloidosis, hereditary renal

Symptoms for Amyloidosis, Hereditary Renal

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48OMIM
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Symptoms by clinical synopsis from OMIM:

105200

Clinical features from OMIM:

105200

Drugs & Therapeutics for Amyloidosis, Hereditary Renal

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Amyloidosis, Hereditary Renal

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Anatomical Context for Amyloidosis, Hereditary Renal

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34MalaCards
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MalaCards organs/tissues related to Amyloidosis, Hereditary Renal:

34
Kidney, Bone

Animal Models for Amyloidosis, Hereditary Renal or affiliated genes

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Publications for Amyloidosis, Hereditary Renal

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Variations for Amyloidosis, Hereditary Renal

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, Hereditary Renal:

65
id Symbol AA change Variation ID SNP ID
1APOA1p.Gly50ArgVAR_000609rs28931574
2APOA1p.Leu84ArgVAR_000610
3FGAp.Glu545ValVAR_010731
4FGAp.Arg573LeuVAR_010732
5LYZp.Ile74ThrVAR_004280
6LYZp.Asp85HisVAR_004281

Clinvar genetic disease variations for Amyloidosis, Hereditary Renal:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1LYZNM_000239.2(LYZ): c.221T> C (p.Ile74Thr)single nucleotide variantPathogenicrs121913547GRCh37Chr 12, 69743972: 69743972
2LYZNM_000239.2(LYZ): c.199G> C (p.Asp67His)single nucleotide variantPathogenicrs387906535GRCh37Chr 12, 69743950: 69743950
3LYZNM_000239.2(LYZ): c.244T> C (p.Trp82Arg)single nucleotide variantPathogenicrs387906536GRCh37Chr 12, 69743995: 69743995
4LYZNM_000239.2(LYZ): c.223T> A (p.Phe75Ile)single nucleotide variantPathogenicrs121913549GRCh37Chr 12, 69743974: 69743974
5LYZNM_000239.2(LYZ): c.244T> A (p.Trp82Arg)single nucleotide variantPathogenicrs387906536GRCh37Chr 12, 69743995: 69743995
6FGANM_000508.3(FGA): c.1718G> T (p.Arg573Leu)single nucleotide variantPathogenicrs78506343GRCh37Chr 4, 155506863: 155506863
7FGAFGA, 1-BP DEL, 4897TdeletionPathogenic
8FGANM_021871.2(FGA): c.1634A> T (p.Glu545Val)single nucleotide variantPathogenicrs121909612GRCh37Chr 4, 155506947: 155506947
9FGAFGA, 1-BP DEL, 4904GdeletionPathogenic
10APOA1NM_000039.1(APOA1): c.251T> G (p.Leu84Arg)single nucleotide variantPathogenicrs121912724GRCh37Chr 11, 116707077: 116707077
11APOA1NM_000039.1(APOA1): c.220T> C (p.Trp74Arg)single nucleotide variantPathogenicrs121912726GRCh37Chr 11, 116707108: 116707108
12APOA1NM_000039.1(APOA1): c.593T> C (p.Leu198Ser)single nucleotide variantPathogenicrs121912729GRCh37Chr 11, 116706735: 116706735
13APOA1NM_000039.1(APOA1): c.595G> C (p.Ala199Pro)single nucleotide variantPathogenicrs121912730GRCh37Chr 11, 116706733: 116706733
14B2MNM_004048.2(B2M): c.286G> A (p.Asp96Asn)single nucleotide variantPathogenicrs398122820GRCh37Chr 15, 45007839: 45007839

Expression for genes affiliated with Amyloidosis, Hereditary Renal

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amyloidosis, Hereditary Renal

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Pathways for genes affiliated with Amyloidosis, Hereditary Renal

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51PathCards, 56Reactome, 31KEGG
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Compounds for genes affiliated with Amyloidosis, Hereditary Renal

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46Novoseek, 52PharmGKB, 30IUPHAR, 25HMDB, 12DrugBank
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Compounds related to Amyloidosis, Hereditary Renal according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nacl469.5LYZ, FGA
2iohexol469.3FGA, APOA1
3prostacyclin469.2FGA, APOA1
4aspirin46 52 30 2512.2FGA, APOA1
5fibrinogen469.1FGA, APOA1
6acetylcholine46 52 30 25 1213.1APOA1, FGA
7pge2469.0FGA, APOA1
8cholesterol46 30 25 1212.0FGA, APOA1
9lactate468.9FGA, APOA1
10creatinine468.7FGA, APOA1

GO Terms for genes affiliated with Amyloidosis, Hereditary Renal

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17Gene Ontology
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Cellular components related to Amyloidosis, Hereditary Renal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725628.9FGA, APOA1
2extracellular spaceGO:0056158.5FGA, LYZ, APOA1
3extracellular vesicular exosomeGO:0700628.5FGA, LYZ, APOA1
4extracellular regionGO:0055768.2APOA1, LYZ, FGA

Biological processes related to Amyloidosis, Hereditary Renal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075969.0FGA, APOA1
2platelet degranulationGO:0025768.9FGA, APOA1
3platelet activationGO:0301688.7FGA, APOA1

Molecular functions related to Amyloidosis, Hereditary Renal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428029.1LYZ, APOA1

Products for genes affiliated with Amyloidosis, Hereditary Renal

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Sources for Amyloidosis, Hereditary Renal

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet